Huntington's disease cerebrospinal fluid seeds aggregation of mutant huntingtin

Mol Psychiatry. 2015 Nov;20(11):1286-93. doi: 10.1038/mp.2015.81. Epub 2015 Jun 23.

Abstract

Huntington's disease (HD), a progressive neurodegenerative disease, is caused by an expanded CAG triplet repeat producing a mutant huntingtin protein (mHTT) with a polyglutamine-repeat expansion. Onset of symptoms in mutant huntingtin gene-carrying individuals remains unpredictable. We report that synthetic polyglutamine oligomers and cerebrospinal fluid (CSF) from BACHD transgenic rats and from human HD subjects can seed mutant huntingtin aggregation in a cell model and its cell lysate. Our studies demonstrate that seeding requires the mutant huntingtin template and may reflect an underlying prion-like protein propagation mechanism. Light and cryo-electron microscopy show that synthetic seeds nucleate and enhance mutant huntingtin aggregation. This seeding assay distinguishes HD subjects from healthy and non-HD dementia controls without overlap (blinded samples). Ultimately, this seeding property in HD patient CSF may form the basis of a molecular biomarker assay to monitor HD and evaluate therapies that target mHTT.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Cells, Cultured
  • Female
  • Humans
  • Huntingtin Protein
  • Huntington Disease / cerebrospinal fluid*
  • Huntington Disease / genetics*
  • Male
  • Microscopy, Electron
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Peptides / cerebrospinal fluid*
  • Protein Aggregation, Pathological / cerebrospinal fluid*
  • Protein Aggregation, Pathological / pathology
  • Rats
  • Rats, Transgenic
  • Transfection

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Peptides
  • polyglutamine